GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
Genetic disorders of glycan synthesis
'Endocrine System Diseases'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Endocrine System Diseases
Gonadal Disorders
Disorders of Sex Development
Adrenogenital Syndrome
Hyperandrogenism
ALG6-CDG
(GDGDB)
[ALG6]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
Hypogonadism
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG12-CDG
(GDGDB)
[ALG12]
ALG1-CDG
(GDGDB)
[ALG1]
Ovarian Diseases
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
Puberty, Delayed
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
MGAT2-CDG
(GDGDB)
[MGAT2]
Pituitary Diseases
Hyperpituitarism
Hyperprolactinemia
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
Thyroid Diseases
Hypothyroidism
PMM2-CDG
(GDGDB)
[PMM2]
ALG8-CDG
(GDGDB)
[ALG8]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
SRD5A3-CDG
[SRD5A3]
TMEM165-CDG
[TMEM165]
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